Varaico: Literature-Extracted Genetic Variants

Gene:FRZB
Variant:p.N249D

FRZB

424 papers

RefSeq Summary

The protein encoded by this gene is a secreted protein that is involved in the regulation of bone development. Defects in this gene are a cause of female-specific osteoarthritis (OA) susceptibility. [...

Pfam Domains

Fzaa 35–143UCSCFz domain
NTRaa 188–291UCSCUNC-6/NTR/C345C module

Gene Aliases

HGNC Name

frizzled related protein

HGNC Alias Symbols

FRZB-PEN; FRZB1; SRFP3; FRP-3; SFRP3; FRE; FRITZ; FRZB-1; FZRB; hFIZ

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001463.4
p.N249D
c.745A>G
Surrounding Variants
1 paper
NM_001463.4
p.L248F
c.742C>T
1 paper
NM_001463.4
p.P247T
c.739C>A
1 paper
NM_001463.4
p.N251N
c.753T>C
1 paper
NM_001463.4
p.Y254H
c.760T>C
1 paper
NM_001463.4
p.S241F
c.722C>T
1 paper
NM_001463.4
p.S241P
c.721T>C
1 paper
NM_001463.4
p.S240N
c.719G>A
1 paper
NM_001463.4
p.Y259C
c.776A>G
1 paper
NM_001463.4
p.N236N
c.708C>T
1 paper
NM_001463.4
p.R264C
c.790C>T
1 paper
NM_001463.4
p.T234A
c.700A>G
6 papers
NM_001463.4
p.R232Q
c.695G>A
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